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Entry | Name | Description | Category | Pathway | Gene |
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H00063 | Spinocerebellar ataxia (SCA) | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... | Neurodegenerative disease | hsa05017 Spinocerebellar ataxia |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] |
H01020 | Optic atrophy | Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion ... | Nervous system disease |
(OPA1) OPA1 [HSA:4976] [KO:K17079] (OPA3) OPA3 [HSA:80207] [KO:K23166] (OPA5) DNM1L [HSA:10059] [KO:K17065] (OPA7) TMEM126A [HSA:84233] [KO:K18157] (OPA9) ACO2 [HSA:50] [KO:K01681] (OPA10) RTN4IP1 [HSA:84816] [KO:K23164] (OPA11) YME1L1 [HSA:10730] [KO:K08955] (OPA12) AFG3L2 [HSA:10939] [KO:K08956] (OPA13) SSBP1 [HSA:6742] [KO:K03111] (OPA14) MIEF1 [HSA:54471] [KO:K23507] (OPA15) MCAT [HSA:27349] [KO:K00645] (OPA16) MECR [HSA:51102] [KO:K07512] |
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H01351 | Spastic ataxia | Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... | Neurodegenerative disease |
(SPAX1) VAMP1 [HSA:6843] [KO:K08510] (SPAX2) KIF1C [HSA:10749] [KO:K10392] (SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874] (SPAX4) MTPAP [HSA:55149] [KO:K18060] (SPAX5) AFG3L2 [HSA:10939] [KO:K08956] (SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592] (SPAX8) NKX6-2 [HSA:84504] [KO:K09350] (SPAX9) CHP1 [HSA:11261] [KO:K17610] (SPAX10) COQ4 [HSA:51117] [KO:K18586] |
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